It appears you have not yet Signed Up with our community. To Sign Up for free, please click here....



Muscular Dystrophy Message Board
Post New Thread   Closed Thread
LinkBack Thread Tools
Old 01-02-2007, 12:15 AM   #1
Junior Member
(female)
 
Join Date: Jan 2007
Location: USA
Posts: 27
belfiore83 HB User
genetic blood tests...

I am curious to see how many of you have been given a genetic blood test to find out which specific form you have. My neuro says I have LGMD and never suggested a blood test to find out which exact subtype, in fact she usually ignored or redirected my questions regarding running a test to find out more specifically. This is very frustrating and Im considering seeking a second opinion. Any suggestions?

 
Old 03-19-2007, 08:36 PM   #2
Junior Member
(female)
 
Join Date: Mar 2007
Location: North Carolina
Posts: 19
goldeneyes HB User
Re: genetic blood tests...

I was given a genetic blood test. It was to find out what kind of myotonia I had, though. My neurologist suspected that it was Myotonic Muscular Dystrophy (which it turned out to be). The MDA also paid for the test (which is why I love the MDA).

 
Sponsors Lightbulb
   
Old 03-20-2007, 01:50 PM   #3
Senior Veteran
(male)
 
michigani's Avatar
 
Join Date: Dec 2004
Location: Michigan
Posts: 538
michigani HB Usermichigani HB Usermichigani HB Usermichigani HB Usermichigani HB Usermichigani HB User
Re: genetic blood tests...

Hi belfiore83,

Boy...where do I start? I've posted over 140 posts, probably at least 30 about my undiagnosed LGMD. Let me start here:

Yes. get a second opinion. My first neurologist (non-MDA) said I had FSH...not even close and I knew it.

Contact your local MDA clinic (just like goldeneyes says). They're awesome and the neurologists there ONLY specialize in Muscular Dystrophy. My 1st doctor at MDA clinic turned me over to another doctor there that ONLY specializes in undiagnosed and very rare MDs. It's been a great experience.

Yet, my case is still undiagnosed after 5 years. Don't let my case get you discouraged however. I've been genetically tested for Dysferlin, Fukutin, Calpain-3, Myotilin, FSH, and all 4 Sarcoglycans. All negative, but AT LEAST somebody's trying.

Read articles on the Internet and don't be afraid to call or email doctors and researchers that might be interested in your case. I do it all the time and most write back...even the big shots. 2 or 3 have asked me to send blood and have tested me using grant money. And tell your doctor "I'd like to be tested for so-and-so mutation". I do that all the time too.

Left click on my username to view my posts and scroll down (past the most recent 40-50 posts). My older posts talk all about my diagnostic journey and undiagnosed LGMD.

And last but not least...be proactive and involved in your treatment and diagnosis! You can only gain from it.

Ask me whatever you'd like, I'll try to help based on my experience. Good Luck.

Mark

Last edited by michigani; 03-22-2007 at 09:05 AM. Reason: Added information

 
Old 06-28-2007, 05:23 AM   #4
Member
(female)
 
Join Date: Jan 2005
Posts: 94
dkbladez HB User
Re: genetic blood tests...

Hello Mark,
Have you gotten your children tested? I am debating whether I should have them tested or not. I been through a journey these last few months but I feel better than I have in a long time. I have a trach now and I have a ventilator. I haven't gotten results from my 2nd biopsy yet but I should know something in July.

 
Old 06-28-2007, 06:57 AM   #5
Senior Veteran
(male)
 
michigani's Avatar
 
Join Date: Dec 2004
Location: Michigan
Posts: 538
michigani HB Usermichigani HB Usermichigani HB Usermichigani HB Usermichigani HB Usermichigani HB User
Re: genetic blood tests...

Quote:
Originally Posted by dkbladez View Post
Hello Mark,
Have you gotten your children tested? I am debating whether I should have them tested or not. I been through a journey these last few months but I feel better than I have in a long time. I have a trach now and I have a ventilator. I haven't gotten results from my 2nd biopsy yet but I should know something in July.

Hi Shellette!
I wondered where you've been. Sounds like you went through quite an ordeal! I'm still walking (slowly) but the chairs, stairs and getting into other peoples homes is REALLY becoming an issue.

No, I've not had my two teenage daughters tested. They are both athletes and seem to be okay so far. I can't see scaring them by suggesting tests. It really wouldn't accomplish anything. I hope there is a cure or treatment by the time they reach their late thirties (just in case). Mostly I pray that they'll be unaffected altogether.

Also, I am STILL undiagnosed as far as a molecular diagnosis goes. (So we wouldn't know WHAT to test for anyway). I am what they call a clinical diagnosis. That means its quite obvious that I have MD, but who knows what kind We're going to look at a possible Titan mutation this year.

Nice to hear from you! Take care for now.

Mark

 
Old 07-19-2007, 11:48 PM   #6
Newbie
(male)
 
Join Date: May 2007
Location: Canada
Posts: 3
Canadian12 HB User
Re: genetic blood tests...

Hello belfiore83,

As I just mentioned in another post today, I have a positive genetic diagnosis of LGMD-2A, or calpainopathy (missing the calpain-3 gene).

I had my blood send to Athena Diagnostics somewhere in the US. I'm sure you can find information online about the tests they offer. I think the cost was around $2000? I may be completely off...I live in Canada and the public health care was nice enough to foot the bill for me. All I had to do was give a blood sample at a local clinic and it was sent down for testing. Results came back in a few weeks.

If you have some knowledge of genetics the results they send are pretty interesting. They give you your complete genetic code for the entire gene they are sequencing compared to the 'normal' genetic code and highlight the exact location of the mistakes causing the loss of gene expression.

Oh, and before I had the genetic test done I went through the fun of having the EMG and muscle biopsy too. My muscle biopsy showed a complete absence of calpain-3, thus giving them a nice target for genetic sequencing.

Hope this helps!

 
Closed Thread

Similar Threads
Thread Thread Starter Board Replies Last Post
Abdominal Pain, Gall Bladder Polyp & Blood test results ooSTEVEoo Gallbladder 10 08-25-2010 02:26 PM
Who is the genetic test done on? berrevoetsd Cystic Fibrosis 4 03-27-2008 08:14 AM
adrenoleukodystrophy-genetic disease kfelcher Rare Disorders 0 11-02-2006 06:47 AM
Genetic Testing needtoescape Alzheimer's Disease & Dementia 1 01-22-2006 05:45 PM
Anyone been tested for immunological/genetic disease causing your back problems? FriarJen83 Back Problems 12 07-10-2005 10:18 PM




Thread Tools

Posting Rules
You may not post new threads
You may not post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is Off
HTML code is Off
Trackbacks are Off
Pingbacks are Off
Refbacks are Off




Join Our Newsletter

Stay healthy through tips curated by our health experts.

Whoops,

There was a problem adding your email Try again

Thank You

Your email has been added








TOP THANKED CONTRIBUTORS



michigani (18), mandy37 (13), Dreaman (10), Greetings (8), yncruzr (6), NP74 (4), bny806 (3), imax3d (2), Julie104 (2), Yogaman (2)

Site Wide Totals

teteri66 (1180), MSJayhawk (1004), Apollo123 (904), Titchou (847), janewhite1 (823), Gabriel (759), ladybud (754), sammy64 (668), midwest1 (668), BlueSkies14 (610)



All times are GMT -7. The time now is 05:03 AM.



Site owned and operated by HealthBoards.comô
Terms of Use © 1998-2014 HealthBoards.comô All rights reserved.
Do not copy or redistribute in any form!